Canonical Allele Identifier: CA466343171

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2895857
• ClinVar RCV Id: RCV003740745
• MyVariant Identifiers: chr9:g.95481619G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719337G>A , CM000671.2:g.92719337G>A	GRCh38
NC_000009.11:g.95481619G>A , CM000671.1:g.95481619G>A	GRCh37
NC_000009.10:g.94521440G>A	NCBI36
NG_033908.1:g.50465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1308C>T MANE Select	ENSP00000349351.6:p.Ala436=
ENST00000356884.10:c.1308C>T	ENSP00000349351.6:p.Ala436=
ENST00000375512.3:c.1308C>T	ENSP00000364662.3:p.Ala436=
NM_001003800.1:c.1308C>T	NP_001003800.1:p.Ala436=
NM_015250.3:c.1308C>T	NP_056065.1:p.Ala436=
XM_017014551.1:c.1389C>T	XP_016870040.1:p.Ala463=
NM_001003800.2:c.1308C>T MANE Select	NP_001003800.1:p.Ala436=
NM_015250.4:c.1308C>T	NP_056065.1:p.Ala436=